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Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site.
Mellor, Greg J; Panwar, Pankaj; Lee, Andrea K; Steinberg, Christian; Hathaway, Julie A; Bartels, Kirsten; Christian, Susan; Balaji, Seshadri; Roberts, Jason D; Simpson, Chris S; Boczek, Nicole J; Tester, David J; Radbill, Andrew E; Mok, Ngai-Shing; Hamilton, Robert M; Kaufman, Elizabeth S; Eugenio, Paul L; Weiss, Raul; January, Craig; McDaniel, George M; Leather, Richard A; Erickson, Christopher; Falik, Shelley; Behr, Elijah R; Wilde, Arthur A M; Sanatani, Shubhayan; Ackerman, Michael J; Van Petegem, Filip; Krahn, Andrew D; Laksman, Zachary.
Afiliação
  • Mellor GJ; Division of Cardiology, University of British Columbia, 1033 Davie St., Rm 211, Vancouver, BC, Canada.
  • Panwar P; Cardiology Department, Royal Papworth Hospital, Cambridge, UK.
  • Lee AK; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, BC, Canada.
  • Steinberg C; Division of Cardiology, University of British Columbia, 1033 Davie St., Rm 211, Vancouver, BC, Canada.
  • Hathaway JA; Division of Cardiology, University of British Columbia, 1033 Davie St., Rm 211, Vancouver, BC, Canada.
  • Bartels K; Division of Cardiology, University of British Columbia, 1033 Davie St., Rm 211, Vancouver, BC, Canada.
  • Christian S; Division of Cardiology, University of British Columbia, 1033 Davie St., Rm 211, Vancouver, BC, Canada.
  • Balaji S; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.
  • Roberts JD; Division of Cardiology, Department of Pediatrics, Oregon Health & Science University, Portland, OR, USA.
  • Simpson CS; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada.
  • Boczek NJ; Heart Rhythm Service, Division of Cardiology, Queen's University, Kingston, ON, Canada.
  • Tester DJ; Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.
  • Radbill AE; Division of Pediatric Cardiology, Department of Pediatrics, Mayo Clinic, Rochester, MN, USA.
  • Mok NS; Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology & Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA.
  • Hamilton RM; Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.
  • Kaufman ES; Division of Pediatric Cardiology, Department of Pediatrics, Mayo Clinic, Rochester, MN, USA.
  • Eugenio PL; Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology & Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA.
  • Weiss R; Vanderbilt University Medical Center, Nashville, TN, USA.
  • January C; Department of Medicine & Geriatrics, Princess Margaret Hospital, Kowloon, Hong Kong.
  • McDaniel GM; Labatt Family Heart Centre and Division of Cardiology, Department of Pediatrics, and Translational Medicine, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.
  • Leather RA; MetroHealth Campus, Case Western Reserve University, Cleveland, OH, USA.
  • Erickson C; Division of Cardiology, Montefiore Medical Center, Bronx, NY, USA.
  • Falik S; Wexner Medical Center, The Ohio State University, Columbus, OH, USA.
  • Behr ER; School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA.
  • Wilde AAM; Division of Pediatric Cardiology, University of Virginia, Charlottesville, VA, USA.
  • Sanatani S; Royal Jubilee Hospital, Victoria, BC, Canada.
  • Ackerman MJ; Pediatric Cardiology, Children's Hospital & Medical Center/University of Nebraska Medical Center, Omaha, NA, USA.
  • Van Petegem F; Division of Cardiology, Department of Medicine, University of New Mexico School of Medicine, Albuquerque, NM, USA.
  • Krahn AD; Cardiology Clinical Academic Group, St. George's, University of London, London, UK.
  • Laksman Z; Heart Centre, Department of Clinical and Experimental Cardiology, Academic Medical Centre, Amsterdam, the Netherlands.
Europace ; 21(11): 1725-1732, 2019 Nov 01.
Article em En | MEDLINE | ID: mdl-31408100
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome do QT Longo / DNA / Mutação de Sentido Incorreto / Canais de Cálcio Tipo L Tipo de estudo: Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Europace Assunto da revista: CARDIOLOGIA / FISIOLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome do QT Longo / DNA / Mutação de Sentido Incorreto / Canais de Cálcio Tipo L Tipo de estudo: Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Europace Assunto da revista: CARDIOLOGIA / FISIOLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Canadá